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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Hereditary Tumor Syndromes with Skin Involvement

Ramiz N Hamid1, Zeynep M Akkurt1

  • 1Department of Dermatology, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, NC, USA.

Dermatologic Clinics
|August 31, 2019
PubMed

Insights

Childhood skin conditions can signal hereditary tumor syndromes. Early diagnosis of genodermatoses enables screening for cancers in patients and families, with new molecular therapies emerging.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • Hereditary tumor syndromes can manifest with cutaneous findings in childhood.
  • Early identification of genodermatoses is crucial for timely cancer screening in affected individuals and families.

Purpose of the Study:

  • To review the pathogenesis and clinical features of inherited skin disorders.
  • To provide updates on the latest treatment strategies for genodermatoses.

Main Methods:

  • Literature review of inherited disorders with skin manifestations.
  • Analysis of current therapeutic approaches, including molecular-based treatments.

Main Results:

  • Genodermatoses present diverse clinical manifestations and underlying genetic causes.
  • Novel molecular therapies are being developed for conditions like xeroderma pigmentosum and Gorlin-Goltz syndrome.

Conclusions:

  • Early detection of childhood genodermatoses is vital for cancer risk assessment.
  • Molecular advancements offer promising new treatment avenues, but further research on efficacy is required.
Keywords:
GenodermatosesGorlin-Goltz syndromeHereditary tumor syndromeXeroderma pigmentosum

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